岩藻糖苷贮积症：具有存活至成年期的严重表型。
Fucosidosis: severe phenotype with survival to adult age.
作者信息
Søvik O, Lie S O, Fluge G, Van Hoof F
出版信息
Eur J Pediatr. 1980 Dec;135(2):211-6. doi: 10.1007/BF00441644.
PMID:6778700
Abstract
A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2.Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of alpha-fucosidase. 4. Survival to adult age (20 years). The deficiency of alpha-fucosidase was demonstrated in liver, tears, urine, sediment, and cultured fibroblasts. We conclude that severe deficiency or complete absence of alpha-fucosidase does not by itself preclude survival to adult age.
摘要
一名患有岩藻糖苷贮积症的男性患者表现出以下特征
- 神经症状起病早且进展迅速。2. 皮肤改变与弥漫性躯体血管角质瘤相符。3. α-岩藻糖苷酶完全或几乎完全缺乏。4. 存活至成年（20岁）。在肝脏、眼泪、尿液、沉淀物和培养的成纤维细胞中证实了α-岩藻糖苷酶的缺乏。我们得出结论，α-岩藻糖苷酶的严重缺乏或完全缺失本身并不排除存活至成年。
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